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Aliases for DOCK4 Gene

Aliases for DOCK4 Gene

  • Dedicator Of Cytokinesis 4 2 3 5
  • Dedicator Of Cytokinesis Protein 4 3
  • KIAA0716 4

External Ids for DOCK4 Gene

Previous GeneCards Identifiers for DOCK4 Gene

  • GC07M109849
  • GC07M110912
  • GC07M110926
  • GC07M110928
  • GC07M110960
  • GC07M111153
  • GC07M111366
  • GC07M105734

Summaries for DOCK4 Gene

Entrez Gene Summary for DOCK4 Gene

  • This gene is a member of the dedicator of cytokinesis (DOCK) family and encodes a protein with a DHR-1 (CZH-1) domain, a DHR-2 (CZH-2) domain and an SH3 domain. This membrane-associated, cytoplasmic protein functions as a guanine nucleotide exchange factor and is involved in regulation of adherens junctions between cells. Mutations in this gene have been associated with ovarian, prostate, glioma, and colorectal cancers. Alternatively spliced variants which encode different protein isoforms have been described, but only one has been fully characterized. [provided by RefSeq, Jul 2008]

GeneCards Summary for DOCK4 Gene

DOCK4 (Dedicator Of Cytokinesis 4) is a Protein Coding gene. Diseases associated with DOCK4 include Deafness, Autosomal Dominant 2A and Usher Syndrome, Type Ic. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Ras signaling pathway. Gene Ontology (GO) annotations related to this gene include GTPase activator activity and guanyl-nucleotide exchange factor activity. An important paralog of this gene is DOCK3.

UniProtKB/Swiss-Prot for DOCK4 Gene

  • Involved in regulation of adherens junction between cells. Plays a role in cell migration. Functions as a guanine nucleotide exchange factor (GEF), which activates Rap1 small GTPase by exchanging bound GDP for free GTP.

Gene Wiki entry for DOCK4 Gene

Additional gene information for DOCK4 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DOCK4 Gene

Genomics for DOCK4 Gene

GeneHancer (GH) Regulatory Elements for DOCK4 Gene

Promoters and enhancers for DOCK4 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J112202 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 650.7 +1.3 1281 5.8 HDGF SMAD1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 POLR2B ZNF143 ZNF277 DOCK4 GC07M112184
GH07J112421 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE 14.3 -216.6 -216562 2.7 HDGF CLOCK ARNT ARID4B NEUROD1 SIN3A DMAP1 SLC30A9 ZNF766 FOS IFRD1 GC07P112424 DOCK4 SMIM30 ZNF277 LOC105375457
GH07J112079 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 16.4 +125.3 125286 3 FOXA2 SIN3A BATF IRF4 RAD21 RFX5 ZNF143 RCOR1 ATF7 FOS DOCK4 IFRD1 ZNF277 GC07M112041 GC07M112180
GH07J112056 Enhancer 0.9 FANTOM5 dbSUPER 15.8 +149.9 149924 0.4 FOXA2 EBF1 FEZF1 BATF YY1 RELA POLR2A ETV6 CREM JUNB DOCK4 IFRD1 ZNF277 GC07M112041 GC07M112180
GH07J112103 Enhancer 0.6 FANTOM5 22.4 +103.1 103086 0.5 OSR2 FOXA2 FOXA3 NFKBIZ DOCK4 ZNF277 IFRD1 GC07M112041 GC07M112180
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DOCK4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DOCK4 gene promoter:
  • Chx10
  • TGIF
  • STAT5B
  • Pax-4a
  • AREB6
  • Olf-1
  • Evi-1
  • IRF-1
  • Pbx1a
  • Egr-4

Genomic Locations for DOCK4 Gene

Genomic Locations for DOCK4 Gene
480,304 bases
Minus strand
480,303 bases
Minus strand

Genomic View for DOCK4 Gene

Genes around DOCK4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DOCK4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DOCK4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DOCK4 Gene

Proteins for DOCK4 Gene

  • Protein details for DOCK4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Dedicator of cytokinesis protein 4
    Protein Accession:
    Secondary Accessions:
    • O14584
    • O94824
    • Q8NB45

    Protein attributes for DOCK4 Gene

    1966 amino acids
    Molecular mass:
    225206 Da
    Quaternary structure:
    • Interacts with the SH3 domain of CRK. Interacts with nucleotide-free Rap1. Interacts with FASLG. Interacts with ELMO2 and EPHA2; mediates activation of RAC1 by EPHA2.
    • Injection of wild-type protein suppresses tumor invasion in osteosarcoma mouse cell lines while it is not the case with the Leu-1718 variant.
    • Sequence=BAC03696.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for DOCK4 Gene


neXtProt entry for DOCK4 Gene

Post-translational modifications for DOCK4 Gene

  • Ubiquitination at posLast=101101
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DOCK4 Gene

Domains & Families for DOCK4 Gene

Gene Families for DOCK4 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry



  • The DHR-2 domain probably mediates the GEF activity.
  • Belongs to the DOCK family.
  • The DHR-2 domain probably mediates the GEF activity.
  • Belongs to the DOCK family.
genes like me logo Genes that share domains with DOCK4: view

Function for DOCK4 Gene

Molecular function for DOCK4 Gene

UniProtKB/Swiss-Prot Function:
Involved in regulation of adherens junction between cells. Plays a role in cell migration. Functions as a guanine nucleotide exchange factor (GEF), which activates Rap1 small GTPase by exchanging bound GDP for free GTP.

Phenotypes From GWAS Catalog for DOCK4 Gene

Gene Ontology (GO) - Molecular Function for DOCK4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity IEA --
GO:0005096 GTPase activator activity IDA,IEA 16464467
GO:0005515 protein binding IPI,IEA 16464467
GO:0017124 SH3 domain binding IEA --
GO:0030165 PDZ domain binding IPI 16464467
genes like me logo Genes that share ontologies with DOCK4: view
genes like me logo Genes that share phenotypes with DOCK4: view

Animal Models for DOCK4 Gene

MGI Knock Outs for DOCK4:
  • Dock4 Dock4<tm1(NCOM)Mfgc>

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DOCK4 Gene

Localization for DOCK4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DOCK4 Gene

Cell membrane. Cell projection. Cytoplasm, cytosol. Note=Colocalizes with EPHA2, RhoG and CTTN/cortactin at the tip of protrusions in migrating cells. {ECO:0000269 PubMed:20679435}.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DOCK4 gene
Compartment Confidence
nucleus 5
cytosol 5
golgi apparatus 5
plasma membrane 4
extracellular 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Cytosol (2)
  • Golgi apparatus (2)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DOCK4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IDA --
GO:0005829 cytosol IDA 20679435
genes like me logo Genes that share ontologies with DOCK4: view

Pathways & Interactions for DOCK4 Gene

genes like me logo Genes that share pathways with DOCK4: view

Pathways by source for DOCK4 Gene

1 KEGG pathway for DOCK4 Gene

Gene Ontology (GO) - Biological Process for DOCK4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007264 small GTPase mediated signal transduction IEA --
GO:0043547 positive regulation of GTPase activity IEA --
GO:0060326 cell chemotaxis IMP 20679435
GO:0065009 regulation of molecular function IEA --
GO:1904694 negative regulation of vascular smooth muscle contraction IMP 22158624
genes like me logo Genes that share ontologies with DOCK4: view

No data available for SIGNOR curated interactions for DOCK4 Gene

Drugs & Compounds for DOCK4 Gene

(3) Drugs for DOCK4 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with DOCK4: view

Transcripts for DOCK4 Gene

Unigene Clusters for DOCK4 Gene

Dedicator of cytokinesis 4:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DOCK4 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^

ExUns: 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^ 46 ^ 47a · 47b ^ 48 ^ 49 ^ 50 ^
SP1: - -
SP2: - -

ExUns: 51 ^ 52a · 52b · 52c

Relevant External Links for DOCK4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DOCK4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DOCK4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DOCK4 Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x4.1).

Protein differential expression in normal tissues from HIPED for DOCK4 Gene

This gene is overexpressed in Cervix (25.1) and Heart (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DOCK4 Gene

Protein tissue co-expression partners for DOCK4 Gene

NURSA nuclear receptor signaling pathways regulating expression of DOCK4 Gene:


SOURCE GeneReport for Unigene cluster for DOCK4 Gene:


mRNA Expression by UniProt/SwissProt for DOCK4 Gene:

Tissue specificity: Widely expressed at low level. Highly expressed in skeletal muscle, prostate and ovary.

Evidence on tissue expression from TISSUES for DOCK4 Gene

  • Nervous system(4.8)
  • Liver(4.2)
  • Kidney(4.1)
genes like me logo Genes that share expression patterns with DOCK4: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for DOCK4 Gene

Orthologs for DOCK4 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for DOCK4 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia DOCK4 34 33
  • 99.71 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 99 (a)
-- 34
  • 97 (a)
-- 34
  • 93 (a)
-- 34
  • 91 (a)
-- 34
  • 89 (a)
(Monodelphis domestica)
Mammalia DOCK4 34
  • 96 (a)
(Bos Taurus)
Mammalia DOCK4 34 33
  • 93 (n)
(Canis familiaris)
Mammalia DOCK4 34 33
  • 92.12 (n)
(Mus musculus)
Mammalia Dock4 16 34 33
  • 90.25 (n)
(Gallus gallus)
Aves DOCK4 34 33
  • 83 (n)
(Anolis carolinensis)
Reptilia DOCK4 34
  • 88 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia dock4 33
  • 78.83 (n)
(Danio rerio)
Actinopterygii DOCK4 (2 of 2) 34
  • 73 (a)
dock4b 34 33
  • 72.54 (n)
fruit fly
(Drosophila melanogaster)
Insecta spg 34
  • 36 (a)
(Caenorhabditis elegans)
Secernentea ced-5 34
  • 23 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 34
  • 16 (a)
Species where no ortholog for DOCK4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DOCK4 Gene

Gene Tree for DOCK4 (if available)
Gene Tree for DOCK4 (if available)
Evolutionary constrained regions (ECRs) for DOCK4: view image

Paralogs for DOCK4 Gene

Paralogs for DOCK4 Gene

(6) SIMAP similar genes for DOCK4 Gene using alignment to 13 proteins:

  • A4D0S8_HUMAN
  • C9J637_HUMAN
  • C9J7D9_HUMAN
  • H0Y599_HUMAN
  • H0Y7H7_HUMAN
  • Q149N2_HUMAN
  • Q149N5_HUMAN
  • Q149N6_HUMAN
  • Q75MU6_HUMAN
genes like me logo Genes that share paralogs with DOCK4: view

Variants for DOCK4 Gene

Sequence variations from dbSNP and Humsavar for DOCK4 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1000001236 -- 112,097,582(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000004683 -- 111,850,033(-) T/C intron_variant
rs1000006741 -- 111,922,145(-) C/G intron_variant
rs1000028308 -- 112,042,203(-) C/T intron_variant
rs1000030397 -- 111,792,016(-) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for DOCK4 Gene

Variant ID Type Subtype PubMed ID
dgv3646n106 CNV deletion 24896259
dgv6586n100 CNV loss 25217958
esv2422365 CNV duplication 17116639
esv2621161 CNV deletion 19546169
esv2662534 CNV deletion 23128226
esv2670440 CNV deletion 23128226
esv2735036 CNV deletion 23290073
esv2735037 CNV deletion 23290073
esv2735038 CNV deletion 23290073
esv2735039 CNV deletion 23290073
esv2761111 CNV loss 21179565
esv2764041 CNV gain+loss 21179565
esv3349349 CNV insertion 20981092
esv3542283 CNV deletion 23714750
esv3572068 CNV loss 25503493
esv3576417 CNV gain 25503493
esv3614614 CNV loss 21293372
esv3614615 CNV loss 21293372
esv3891190 CNV loss 25118596
esv3891191 CNV loss 25118596
esv9335 CNV loss 19470904
nsv1137281 CNV deletion 24896259
nsv464689 CNV gain 19166990
nsv473731 CNV novel sequence insertion 20440878
nsv477464 CNV novel sequence insertion 20440878
nsv479325 CNV novel sequence insertion 20440878
nsv516034 CNV loss 19592680
nsv5901 CNV deletion 18451855
nsv608196 CNV loss 21841781
nsv608200 CNV gain 21841781
nsv608215 CNV loss 21841781
nsv608226 CNV gain 21841781
nsv824270 CNV loss 20364138
nsv956027 CNV deletion 24416366
nsv966876 CNV duplication 23825009
nsv966877 CNV duplication 23825009

Variation tolerance for DOCK4 Gene

Residual Variation Intolerance Score: 5.58% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DOCK4 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DOCK4 Gene

Disorders for DOCK4 Gene

MalaCards: The human disease database

(5) MalaCards diseases for DOCK4 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal dominant 2a
  • dfna2a
usher syndrome, type ic
  • ush1c
reading disorder
  • dyslexia
  • autistic disorder
- elite association - COSMIC cancer census association via MalaCards
Search DOCK4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DOCK4

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with DOCK4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DOCK4 Gene

Publications for DOCK4 Gene

  1. DOCK4, a GTPase activator, is disrupted during tumorigenesis. (PMID: 12628187) Yajnik V … Haber DA (Cell 2003) 2 3 4 58
  2. Identification of an evolutionarily conserved superfamily of DOCK180-related proteins with guanine nucleotide exchange activity. (PMID: 12432077) Côté JF … Vuori K (Journal of cell science 2002) 2 3 4 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. Ephexin4 and EphA2 mediate cell migration through a RhoG-dependent mechanism. (PMID: 20679435) Hiramoto-Yamaki N … Katoh H (The Journal of cell biology 2010) 3 4 58
  5. Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia. (PMID: 20346443) Pagnamenta AT … International Molecular Genetic Study Of Autism Consortium (Biological psychiatry 2010) 3 44 58

Products for DOCK4 Gene

Sources for DOCK4 Gene

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